Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_assertion> ?p ?o ?g. }
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- NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_assertion type Assertion NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_head.
- NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_assertion description "[We describe a severe congenital myasthenic syndrome (CMS) caused by two missense mutations in the gene encoding the muscle specific receptor tyrosine kinase (MUSK).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.
- NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_assertion evidence source_evidence_literature NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.
- NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_assertion SIO_000772 20371544 NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.
- NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_assertion wasDerivedFrom befree-2016 NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.
- NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_assertion wasGeneratedBy ECO_0000203 NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.